SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

Multiple Sulfatase Deficiency (MSD) is caused by mutations in the sulfatase-modifying factor 1 gene encoding the formylglycine-generating enzyme (FGE). FGE post translationally activates all newly synthesized sulfatases by generating the catalytic residue formylglycine. Impaired FGE function leads t...

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Hlavní autoři: Schlotawa, Lars, Ennemann, Eva Charlotte, Radhakrishnan, Karthikeyan, Schmidt, Bernhard, Chakrapani, Anupam, Christen, Hans-Jürgen, Moser, Hugo, Steinmann, Beat, Dierks, Thomas, Gärtner, Jutta
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062010/
https://ncbi.nlm.nih.gov/pubmed/21224894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.219
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